DefinitionThis section has been translated automatically.
Autosomal-dominant or autosomal-recessive inherited dysplasia syndrome that combines synophrys (mono eyebrows) with typical acromegaloid facial features
- Thickening of the lip and oral mucosa
- increased frequency of tongues
- Acromegaloid appearance of the face
- progressive increase in thickness of the nose, lips
- Thickening of the skin around the eyelids with narrowing of the eyelid crevices
- large hands with pasty consistency of the skin and overstretchable metacarpophalangeal joints and interphalangeal joints
Occurrence/EpidemiologyThis section has been translated automatically.
Prevalence: <1 / 1 000 000
LiteratureThis section has been translated automatically.
- Dallapiccola B et al (1992) Acromegaloid facial appearance (AFA) syndrome: report of a second family. J Med Genet 29: 419-422.
- da-Silva EO et al (1998) A new case of the acromegaloid facial appearance syndrome? Clin Dysmorphol 7:75-76.
- Hughes H E et al (1985) An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. J. Med. Genet 22: 119-125.
- Kini U et al (2004) Acromegaloid facial appearance syndrome: a further case report. Clin Dysmorph 13: 251-253
Incoming links (1)Synophrys;
Outgoing links (1)Synophrys;
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